Linked Data
dbSNP Id:
rs921941989
gnomAD v2:
19-41858901-ACAGCAGCGGTAG-A
gnomAD v3:
19-41352996-ACAGCAGCGGTAG-A
gnomAD v4:
19-41352996-ACAGCAGCGGTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41353006_41353017del , CM000681.2:g.41353006_41353017del | GRCh38 |
| NC_000019.9:g.41858911_41858922del , CM000681.1:g.41858911_41858922del | GRCh37 |
| NC_000019.8:g.46550751_46550762del | NCBI36 |
| NG_013091.1:g.16166_16177del | |
| NG_013364.1:g.5919_5930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.37_48del (TGFB1) MANE Select | ENSP00000221930.4:p.Leu13_Leu16del | |
| ENST00000600196.2:c.37_48del (TGFB1) | ENSP00000504008.1:p.Leu13_Leu16del | |
| ENST00000677934.1:c.37_48del (TGFB1) | ENSP00000504769.1:p.Leu13_Leu16del | |
| ENST00000221930.5:c.37_48del (TGFB1) | ENSP00000221930.4:p.Leu13_Leu16del | |
| ENST00000539627.5:c.-30+1804_-30+1815del (TMEM91) | ENSP00000441900.1:n.-30+1804_-30+1815del | |
| ENST00000604424.1:n.350+1804_350+1815del | ||
| NM_000660.5:c.37_48del (TGFB1) | NP_000651.3:p.Leu13_Leu16del | |
| XM_011527242.1:c.37_48del (TGFB1) | XP_011525544.1:p.Leu13_Leu16del | |
| NM_000660.6:c.37_48del (TGFB1) | NP_000651.3:p.Leu13_Leu16del | |
| XM_011527242.2:c.37_48del (TGFB1) | XP_011525544.1:p.Leu13_Leu16del | |
| NM_000660.7:c.37_48del (TGFB1) MANE Select | NP_000651.3:p.Leu13_Leu16del |